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A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer.

ABSTRACT: BACKGROUND: Germline mutations in either of the two tumor-suppressor genes, BRCA1 and BRCA2, account for a significant proportion of hereditary breast and ovarian cancer cases. Most of these mutations consist of deletions, insertions, nonsense mutations, and splice variants, however an increasing number of large genomic rearrangements have been identified in these genes. METHODS: We analysed BRCA1 and BRCA2 genes by direct sequencing and MLPA. We confirmed the results by an alternative MLPA kit and characterized the BRCA1 deletion by Array CGH. RESULTS: We describe the first case of a patient with no strong family history of the disease who developed early-onset bilateral breast cancer with a de novo complete BRCA1 gene deletion in the germinal line. The detected deletion started from the region surrounding the VAT1 locus to the beginning of NBR1 gene, including the RND2, ?BRCA1, BRCA1 and NBR2 complete genes. CONCLUSION: This finding supports the large genomic rearrangement screening of BRCA genes in young breast cancer patients without family history, as well as in hereditary breast and ovarian cancer families previously tested negative for other variations.

SUBMITTER: Garcia-Casado Z

PROVIDER: S-EPMC3207938 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer.

Garcia-Casado Zaida Z Romero Ignacio I Fernandez-Serra Antonio A Rubio Luis L Llopis Francisco F Garcia Ana A Llombart Pilar P Lopez-Guerrero Jose A JA

BMC medical genetics 20111011

<h4>Background</h4>Germline mutations in either of the two tumor-suppressor genes, BRCA1 and BRCA2, account for a significant proportion of hereditary breast and ovarian cancer cases. Most of these mutations consist of deletions, insertions, nonsense mutations, and splice variants, however an increasing number of large genomic rearrangements have been identified in these genes.<h4>Methods</h4>We analysed BRCA1 and BRCA2 genes by direct sequencing and MLPA. We confirmed the results by an alternat ...[more]

PMID: 21989022

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Project description:BackgroundHysterectomy is one of the most frequent gynecologic surgeries in the United States. Women undergoing hysterectomy are commonly offered bilateral oophorectomy for ovarian and breast cancer prevention. Although bilateral oophorectomy may dramatically reduce the risk of gynecologic cancers, some studies suggested that bilateral oophorectomy may be associated with an increased risk of other types of cancer, such as lung cancer and colorectal cancer. However, the results are conflicting.ObjectiveTo study the association between bilateral oophorectomy and the risk of subsequent cancer of any type.Study designThis population-based cohort study included all premenopausal women who underwent bilateral oophorectomy for a nonmalignant indication before the age of 50, between January 1, 1988 and December 31, 2007 in Olmsted County, Minnesota, and a random sample of age-matched (±1 year) referent women who did not undergo bilateral oophorectomy. Women with cancer before oophorectomy (or index date) or within 6 months after the index date were excluded. Time-to-event analyses were performed to assess the risk of de novo cancer. Cancer diagnosis and type were confirmed using medical record review.ResultsOver a median follow-up of 18 years, the risk of any cancer did not significantly differ between the 1562 women who underwent bilateral oophorectomy before natural menopause and the 1610 referent women (adjusted hazard ratio, 0.82; 95% confidence interval, 0.66-1.03). However, women who underwent bilateral oophorectomy had a decreased risk of gynecologic cancers (adjusted hazard ratio, 0.15; 95% confidence interval, 0.06-0.34) but not of nongynecologic cancers (adjusted hazard ratio, 0.99; 95% confidence interval, 0.78-1.26). In particular, the risk of breast cancer, gastrointestinal cancer, and lung cancer did not differ between these 2 cohorts. Use of estrogen therapy through the age of 50 years in women who underwent bilateral oophorectomy did not modify the results.ConclusionWomen who underwent bilateral oophorectomy before menopause have a reduced risk of gynecologic cancer but not of other types of cancer including breast cancer. Women at average risk of ovarian cancer should not consider bilateral oophorectomy for the prevention of breast cancer or other nongynecologic cancers.

Dataset Information

A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer.

Publications

A de novo complete BRCA1 gene deletion identified in a Spanish woman with early bilateral breast cancer.

Similar Datasets

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